title: HLA-DQB1*0602 homozygosity increases relative risk for narcolepsy but not disease severity in two ethnic groups. US Modafinil in Narcolepsy Multicenter Study Group.
abstract: Narcolepsy is a neurological disorder known to be tightly associated with HLA-DQA1*0102 and DQB1*0602. In this study, we have examined if homozygosity for DQB1*0602 increases disease susceptibility and/or severity. Patients diagnosed at Stanford University (n=160) or enrolled in a multicenter clinical trial (n=509) were included in this analysis. In both African-Americans and Caucasian-Americans with or without cataplexy, a significantly higher than expected number of subjects were DQB1*0602 homozygotes. Relative risks were 2-4 times higher in DQB1*0602 homozygotes vs heterozygotes across all patient groups. In contrast, symptom severity did not differ between DQB1*0602 homozygous and heterozygous subjects. These results indicate that HLA-DQB1*0602 homozygosity increases susceptibility to narcolepsy but does not appear to influence disease severity.
authors.affiliation: Sleep Clinic, Department of Neurology, Cerrahpasa Medical School, Istanbul, Turkey.
authors.forename: Z
authors.initials: Z
authors.lastname: Pelin
authors.forename: C
authors.initials: C
authors.lastname: Guilleminault
authors.forename: N
authors.initials: N
authors.lastname: Risch
authors.forename: F C
authors.initials: FC
authors.lastname: Grumet
authors.forename: E
authors.initials: E
authors.lastname: Mignot
mesh_terms: D000328:Adult; D044383:Black People / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D005260:Female; D006683:HLA-DQ Antigens / Q000235:genetics*; D059866:HLA-DQ beta-Chains; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009290:Narcolepsy / Q000235:genetics* / Q000276:immunology; D012307:Risk Factors; D012720:Severity of Illness Index; D044465:White People / Q000235:genetics*; D001741:Black or African American
chemical_list: D006683:HLA-DQ Antigens; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen